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Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Among authors: czermin b. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-Kine D, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF. Yu-Wai-Man P, et al. Among authors: czermin b. Ophthalmology. 2010 Aug;117(8):1538-46, 1546.e1. doi: 10.1016/j.ophtha.2009.12.038. Epub 2010 Apr 24. Ophthalmology. 2010. PMID: 20417570 Free PMC article.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Kemp JP, et al. Among authors: czermin b. Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17. Brain. 2011. PMID: 21169334 Free PMC article.
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Among authors: czermin b. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 Free PMC article.
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Fratter C, et al. Among authors: czermin b. Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. Neurology. 2011. PMID: 21646632 Free PMC article. No abstract available.
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF. Horvath R, et al. Among authors: czermin b. J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29. J Neurol Neurosurg Psychiatry. 2012. PMID: 22036850
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Among authors: czermin b. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article.
Respiratory chain deficiency in nonmitochondrial disease.
Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Pyle A, et al. Among authors: czermin b. Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066545 Free PMC article.
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Taylor RW, et al. Among authors: czermin b. JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184. JAMA. 2014. PMID: 25058219 Free PMC article.
28 results